AUDITORY MECHANOTRANSDUCTION PATHWAY (PW:0001503)

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Description

The auditory system has exquisitely intricate mechanisms that convert mechanical stimuli - mechanotransduction, intro electrical signals that are processed by the brain and account for the perception of sound, gravity and movement. The inner ear - a fluid-filled organ, contains the shell-shaped cochlea and the vestibule responsible for sound and for gravitation and movement mechanotransduction, respectively. Within the cochlea, the organ of Corti (OC) contains the hair cells - specialized sens

Pathway Diagram:

Elsevier Inc. PIP2 auditory perception processing Slc17a8 ribbon synapse amplification outer hair cell (OHC) - three rows K+ Ca2+ glutamate superior olivary complex Otof various, non-sensory, supporting cell outer hair cell (OHC) - three rows --+> SGN type II Myo7a ---- Ush1c Espn ---- Myo3a Myo1c MET channel Espn Myo3a Pcdh15 ---- Ush1c Cdh23 ---- Pcdh15 Cdh23 ---- Ush1c Dfnb31 Myo15a Cdh23 Pcdh15 Gpr98 Myo1c ---- PIP2 Pls1 Actb Pls3 Ush2a central nervous system SGN type I ribbon synapse --+> SGN type I SGN type II superior olivary complex ---| outer hair cell (OHC) - three rows Myo6 Myo6 ---- Otof Ptprq Ush1c Ush1c ---- Ush1g Ush1g Myo7a Myo7a ---- Ush1g Cdh23 ---- Myo1c Actg1
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Genes in Pathway:

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auditory mechanotransduction pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:8547669
G Adgrv1 adhesion G protein-coupled receptor V1 JBrowse link 2 8,926,843 9,504,455 RGD:8547669
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8547667
RGD:8547671
G Espn espin JBrowse link 5 169,293,356 169,331,338 RGD:8547667
RGD:8547669
G Myo15a myosin XVA JBrowse link 10 46,840,098 46,897,362 RGD:8547667
G Myo1c myosin 1C JBrowse link 10 63,803,311 63,819,614 RGD:8547667
G Myo3a myosin IIIA JBrowse link 17 88,952,635 89,167,538 RGD:8547667
G Myo6 myosin VI JBrowse link 8 87,583,649 87,731,271 RGD:8547669
RGD:8547672
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:8547667
RGD:8547671
G Otof otoferlin JBrowse link 6 27,328,343 27,424,864 RGD:8547672
G Pcdh15 protocadherin related 15 JBrowse link 20 14,952,213 15,334,745 RGD:8547667
RGD:8547671
G Pls1 plastin 1 JBrowse link 8 103,557,361 103,659,625 RGD:8547669
G Pls3 plastin 3 JBrowse link X 119,030,311 119,124,268 RGD:8547669
G Ptprq protein tyrosine phosphatase, receptor type, Q JBrowse link 7 49,763,657 50,034,932 RGD:8547669
G Slc17a8 solute carrier family 17 member 8 JBrowse link 7 30,215,231 30,274,993 RGD:8547672
G Ush1c USH1 protein network component harmonin JBrowse link 1 102,207,096 102,256,779 RGD:8547667
RGD:8547671
G Ush1g USH1 protein network component sans JBrowse link 10 103,866,566 103,873,416 RGD:8547671
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8547669
G Whrn whirlin JBrowse link 5 79,235,541 79,317,206 RGD:8547667

Pathway Gene Annotations

Disease Annotations Associated with Genes in the auditory mechanotransduction pathway
Disease TermsGene Symbols
Abnormalities, MultipleActb
AnoxiaActb
CarcinomaActb
Carcinoma, HepatocellularActb
Cochlear DiseasesPcdh15 , Slc17a8
ColobomaActb
Combined Saposin DeficiencyCdh23
Craniofacial AbnormalitiesActb
DeafnessEspn , Myo7a , Otof , Pcdh15 , Ush1g
Deafness, Autosomal Dominant 11Myo7a
Deafness, Autosomal Dominant 22Myo6
Deafness, Autosomal Dominant 25Slc17a8
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22Myo6
Deafness, Autosomal RecessiveCdh23 , Otof
Deafness, Autosomal Recessive 12Cdh23
Deafness, Autosomal Recessive 18Ush1c
Deafness, Autosomal Recessive 18AUsh1c
Deafness, Autosomal Recessive 2Myo7a
Deafness, Autosomal Recessive 23Pcdh15
Deafness, Autosomal Recessive 3Myo15a
Deafness, Autosomal Recessive 30Myo3a
Deafness, Autosomal Recessive 31Whrn
Deafness, Autosomal Recessive 36, with or without Vestibular InvolvementEspn
Deafness, Autosomal Recessive 36, without Vestibular InvolvementEspn
Deafness, Autosomal Recessive 37Myo6
Deafness, Autosomal Recessive 84APtprq
Deafness, Autosomal Recessive 9Otof
Deafness, Sensorineural, with Hypertrophic CardiomyopathyMyo6
Deafness, with Smith-Magenis SyndromeMyo15a
Drug-Induced Liver InjuryActb
DysostosesActb
DystoniaActb
Epilepsy, Temporal LobeActb
Esophageal NeoplasmsActb
Febrile Convulsions, Familial, 4Adgrv1
Focal Segmental Glomerulosclerosis 6Myo1c
Genetic Diseases, InbornActb , Cdh23 , Espn
Hearing LossCdh23 , Myo15a , Myo3a , Myo6 , Myo7a , Otof , Pcdh15 , Ush1c , Ush2a , Whrn
Hearing Loss, BilateralMyo3a
Hearing Loss, Noise-InducedCdh23
Hearing Loss, SensorineuralActb , Myo15a , Myo6 , Myo7a , Ush1c , Ush2a , Whrn
HyperalgesiaSlc17a8
HypertensionMyo6
HypothyroidismOtof
Iris Coloboma with Ptosis, Hypertelorism, and Mental RetardationActb
Ischemic Attack, TransientSlc17a8
Juvenile-Onset DystoniaActb
Leber Congenital AmaurosisMyo7a , Ush2a
Leukodystrophy, Globoid CellCdh23
Leukodystrophy, MetachromaticCdh23
Liver Cirrhosis, ExperimentalMyo1c
Liver NeoplasmsPls1
Loeys-Dietz Syndrome 4Ush2a
Lung NeoplasmsActb , Adgrv1
Mammary Neoplasms, AnimalActb
Mammary Neoplasms, ExperimentalActb
MelanomaCdh23 , Myo7a , Otof , Ush2a
Microphthalmia, Syndromic 1Myo1c
Myocardial IschemiaActb
Neoplasm InvasivenessActb
Nervous System MalformationsActb
Non-alcoholic Fatty Liver DiseaseActb
Nonsyndromic DeafnessMyo15a , Myo3a , Myo6 , Otof , Pcdh15 , Ush1c , Ush2a
Nonsyndromic Sensorineural Hearing LossMyo6 , Myo7a , Slc17a8
Nystagmus, CongenitalMyo7a
OsteoarthritisActb , Pls3
Ovarian NeoplasmsMyo6
Parkinsonian DisordersSlc17a8
PneumoconiosisCdh23
PresbycusisCdh23
Prostatic NeoplasmsMyo6 , Ush2a
Retinal DiseasesCdh23
Retinal DystrophiesAdgrv1 , Cdh23 , Myo7a , Pcdh15 , Ush1c , Ush2a , Whrn
Retinitis PigmentosaCdh23 , Myo7a , Pcdh15 , Ush1c , Ush1g , Ush2a
Retinitis Pigmentosa 39Ush2a
Sciatic NeuropathySlc17a8
Seizures, FebrileActb
Smith-Magenis SyndromeMyo15a , Ush1g
Substance-Related DisordersMyo6 , Pcdh15
TrichinellosisSlc17a8
Usher Syndrome, Type 1Adgrv1 , Cdh23 , Myo7a , Pcdh15 , Ush1c , Ush1g , Ush2a
Usher Syndrome, Type 1BMyo7a , Pcdh15 , Ush1c , Ush1g
Usher Syndrome, Type 1CUsh1c
Usher Syndrome, Type 1DCdh23 , Pcdh15
Usher Syndrome, Type 1FPcdh15
Usher Syndrome, Type 2Ush2a , Whrn
Usher Syndrome, Type 2AUsh2a
Usher Syndrome, Type 2CAdgrv1
Usher Syndrome, Type ID/FCdh23 , Pcdh15
Usher Syndrome, Type IGUsh1g
Usher Syndrome, Type IIDWhrn
Usher SyndromesAdgrv1 , Cdh23 , Myo7a , Pcdh15 , Ush1c , Ush1g , Ush2a , Whrn
Vestibular DiseasesEspn , Myo7a
Pathway Annotations Associated with Genes in the auditory mechanotransduction pathway
Phenotype Annotations Associated with Genes in the auditory mechanotransduction pathway

References Associated with the auditory mechanotransduction pathway:

Ontology Path Diagram:

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Import into Pathway Studio: